Ottawa lab in a race against time to save 16-year-old girl who suffers from thousands of seizures every day

In a darkened room of her family’s home north of Ottawa, India Taylor blacks out literally every few seconds, suffering thousands of epileptic-like seizures each day, some of them now frighteningly violent.

The 16-year-old has a terminal neurological condition that could not be more rare: She is the only patient diagnosed with it anywhere in the world.

She’s been working like crazy, trying to discover from scratch what’s going on with India’s neurons

For months, though, India’s family has clung to a slim hope: their extraordinary collaboration with Steffany Bennett, a family friend who by strange coincidence is also a neuroscientist specializing in such disorders of the brain.

Prof. Bennett has led her laboratory at the University of Ottawa in a race against time to understand what is happening to India and to find a way to defuse the genetic time bomb that is killing the teenager.

“She’s been working like crazy, trying to discover from scratch what’s going on with India’s neurons,” said Mark Taylor, India’s father. “Without Steffany Bennett’s lab, where would we be?”

The notion of a basic-science laboratory focusing a significant part of its work on one patient is almost unheard of, said Dr. Erick Sell, the girl’s neurologist. He could point only to Lorenzo’s Oil, the treatment developed for another rare neurological disease at the urging of one American patient’s father — and the name of a Hollywood movie about the saga.

But Prof. Bennett said she is simply applying the “unique skill set” of her lab and its dozen researchers to help out a child she has known since birth, as she said anyone would do.

We don’t have much time and this needs time

“I told my team about this situation and the whole group has been willing to put in late-night shifts to do all we can to speed up the research,” she said in an email interview. “[But] we don’t have much time and this needs time … We may be too late — India is very, very ill.

Mark Taylor and his wife, Lesley Buxton, have set up a website — onestrong.org — to raise money for the Neural Regeneration Laboratory, which says this research could be applied more widely, too. The news they received Thursday about their daughter’s prognosis, though, could not have been worse.

India grew up as a normal, healthy child, taking riding lessons, doing gymnastics and learning to sing in a voice that, her parents say, “could send shivers up and down your spine.”

The first sign that something was amiss came in 2007, at age 10, when she would fall down every day on her way to the beach on a Cape Breton vacation.

She’s seeing things, hearing things. She’s pretty much terrified

She was later diagnosed with epileptic seizures that have only grown worse and more resistant to medication and other treatments.

Desperate for answers, the parents enrolled India in the FORGE (Finding of Rare Disease Genes in Canada) study to see if her illness was genetically caused.

In the meantime, troubling new symptoms appeared. India’s legs started to get “wobbly,” then could barely move, while her hands trembled. She had trouble hearing and spoke with a strange quaver. She is now bed-ridden.

India can converse with her parents for a few seconds at a time, before suddenly blacking out, then reviving seconds later in a constant, debilitating cycle. One of them must be with her 24 hours a day, calming her through bouts of paranoia.

Late last year, FORGE discovered that India is suffering from a rare gene mutation, meaning that her brain cells are unable to rid themselves of the lipid ceramide, essentially impeding the normal neuron process.

It was initially thought she suffered from a newly discovered, extremely uncommon syndrome called “spinal muscular atrophy with progressive myoclonic epilepsy” (SMA-PME). But that disease starts with muscular atrophy, the seizures being a late-stage, secondary symptom. What she has is totally novel.

That is when the story became even more unusual. Mark Taylor’s brother, Geoff, is best friends with Prof. Bennett; in fact, they both play in a “thrash cowboy” alternative rock band called Black Boot Trio.

India’s genetic diagnosis fit perfectly with her lab’s work on how lipids — or fats — affect the workings of the brain, and the dysfunction that leads to such diseases as Alzheimer’s.

When she heard about the cause of India’s disorder, the researcher leapt into action, Mr. Taylor said.

“India is family and every life is precious,” the scientist said Thursday. “I don’t know what to say — I want to help. I don’t know if I can, but I will try.”

Prof. Bennett theorizes that India’s problems are a result of defects in the “pathway” that builds up and breaks down lipids in the brain.

Her goal now is to try to reverse the process that is causing India’s problems, and once even instructed students in a second-year biochemistry class to research possible, existing compounds that could be tried out as antidotes.

India is family and every life is precious

Meanwhile, however, India’s condition has worsened. She now suffers frequent “tonic-clonic” seizures, what used to be called grand-mal seizures.

On Thursday, Dr. Sell told Mr. Taylor there is virtually no hope a treatment will be found for India in time.

India’s parents posted the grim news on their website, but Mr. Taylor stressed that the money they raise will fund research that could still benefit others.